"3billion"[submitter] AND "EP300"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444383	NM_001429.4(EP300):c.1709_1710del (p.Gln570fs)	EP300 (Q570fs)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely pathogenic
Select item 1321274	NM_001429.4(EP300):c.1861G>A (p.Glu621Lys)	EP300 (E621K)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 1526077	NM_001429.4(EP300):c.2132-1G>A	EP300	Single nucleotide variant (splice acceptor variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely pathogenic
Select item 1705291	NM_001429.4(EP300):c.2461_2470del (p.Gln821fs)	EP300 (Q795fs +1 more)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely pathogenic
Select item 1687496	NM_001429.4(EP300):c.2998-3_2998-2del	EP300, LOC126863158	Deletion (splice acceptor variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely pathogenic
Select item 1174646	NM_001429.4(EP300):c.3671+1G>A	EP300	Single nucleotide variant (splice donor variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic/Likely pathogenic
Select item 1320123	NM_001429.4(EP300):c.3826_3827dup (p.Leu1276fs)	EP300 (L1250fs +1 more)	Duplication (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 378053	NM_001429.3(EP300):c.3857A>G	EP300 (N1286S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1687605	NM_001429.4(EP300):c.4340T>G (p.Ile1447Ser)	EP300 (I1421S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 372363	NM_001429.4(EP300):c.4783T>G (p.Phe1595Val)	EP300 (F1595V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1320268	NM_001429.4(EP300):c.5486G>C (p.Arg1829Pro)	EP300 (R1803P +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely pathogenic
Select item 1320204	NM_001429.4(EP300):c.5493G>C (p.Arg1831Ser)	EP300 (R1805S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely pathogenic